Congenital disorder of glycosylation

Disease Term Disease ID Gene Symbol Classification References Source
ALG1-CDG 79327 ALG1 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation type 1K C2931005 ALG1 Causal Pathogenic evidence from ClinVar 14709599, 14973778, 14973782, 20679665, 22966035, 26453362, 26931382, 27172925, 27325525, 27604308, 28554332 ClinVar
Congenital Disorders of Glycosylation C0282577 ALG1 Causal Pathogenic evidence from ClinVar 14709599, 14973778, 14973782, 25956699, 26931382, 27172925, 27325525, 28554332 ClinVar
DPM1 Causal Pathogenic evidence from ClinVar - ClinVar
MAGT1 Causal Pathogenic evidence from ClinVar - ClinVar
PMM2 Causal Pathogenic evidence from ClinVar - ClinVar
SRD5A3 Causal Pathogenic evidence from ClinVar - ClinVar
ALG13-CDG 324422 ALG13 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation type 1s C4317295 ALG13 Causal Pathogenic evidence from ClinVar 23934111 ClinVar
CCDC115-CDG 468684 CCDC115 Causal Pathogenic evidence from ClinVar - ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo C4225191 CCDC115 Causal Pathogenic evidence from ClinVar 26833332 ClinVar
COG1-CDG 263508 COG1 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation, type 2G C2931011 COG1 Causal Pathogenic evidence from ClinVar 19008299, 27604308 ClinVar
COG2-CDG 435934 COG2 Causal Pathogenic evidence from ClinVar - ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq C4479353 COG2 Causal Pathogenic evidence from ClinVar 24784932 ClinVar
COG4-CDG 263501 COG4 Causal Pathogenic evidence from ClinVar - ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj C3150736 COG4 Causal Pathogenic evidence from ClinVar 11980916, 19494034, 19651599, 21185756, 25529582, 27604308 ClinVar
COG5 congenital disorder of glycosylation C3150876 COG5 Causal Pathogenic evidence from ClinVar 19690088, 23228021, 27604308, 28960046 ClinVar
COG5-CDG 263487 COG5 Causal Pathogenic evidence from ClinVar - ClinVar
COG7-CDG 79333 COG7 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation type 2E C2931010 COG7 Causal Pathogenic evidence from ClinVar 15107842, 17356545, 19577670, 27604308 ClinVar
COG8-CDG 95428 COG8 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital Disorder Of Glycosylation, Type IIH C1970021 COG8 Causal Pathogenic evidence from ClinVar 11980916, 17220172, 17331980, 27604308 ClinVar
Congenital disorder of glycosylation type 1r C3281084 DDOST Causal Pathogenic evidence from ClinVar 22305527 ClinVar
DDOST-CDG 300536 DDOST Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation type 1J C2931004 DPAGT1 Causal Pathogenic evidence from ClinVar 12872255, 22492991, 25500013, 27604308, 30388443, 30653653 ClinVar
DPAGT1-CDG 86309 DPAGT1 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital disorder of glycosylation type 1q C4317224 DPM1 Causal Pathogenic evidence from ClinVar 10642597 ClinVar
PMM2 Causal Pathogenic evidence from ClinVar 21937992 ClinVar
SRD5A3 Causal Pathogenic evidence from ClinVar 18271001, 20637498, 20852264, 22304929, 24433453, 27480077, 27604308 ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie C1837396 DPM1 Causal Pathogenic evidence from ClinVar 10642597, 10642602, 15669674, 23856421, 26729507, 27604308 ClinVar
ADNP-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23856421, 26729507 -
DPM1-CDG 79322 DPM1 Causal Pathogenic evidence from ClinVar - ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa C4310727 NUS1 Causal Pathogenic evidence from ClinVar 25066056, 30348779 ClinVar
Congenital disorder of glycosylation type 1A C0349653 PMM2 Causal Pathogenic evidence from ClinVar 7670249, 9140401, 9497260, 9781039, 10066032, 10386614, 10527672, 10571956, 10602363, 10801058, 10922383, 11058895, 11058896, 11134235, 11156536, 11350185, 11409861, 11517108, 11589167, 11715002, 11875054, 12357336, 12607543, 12626389, 12705494, 13129599, 15272470, 15277997, 15645285, 15714316, 15844218, 16085795, 16376131, 16540464, 16825284, 17166182, 17186415, 17307006, 17308246, 17451957, 17920054, 18571450, 18948042, 19235233, 19357119, 19396570, 19862844, 20638314, 21228398, 21539312, 21541725, 21949237, 22012410, 22649348, 22801829, 23045520, 23137060, 23430838, 23806237, 24037084, 24498599, 24739649, 25355454, 25497157, 25525159, 26014514, 26206375, 26488408, 26502900, 26629787, 26805780, 27415628, 27604308, 28122681, 28139241, 28425223, 28954837, 29229467 ClinVar
PMM2-CDG 79318 PMM2 Causal Pathogenic evidence from ClinVar - ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn C4225234 SLC39A8 Causal Pathogenic evidence from ClinVar 26637978, 26637979, 27604308, 29903433 ClinVar
SLC39A8-CDG 468699 SLC39A8 Causal Pathogenic evidence from ClinVar - ClinVar
SRD5A3-CDG 324737 SRD5A3 Causal Pathogenic evidence from ClinVar - ClinVar
ALG11-CDG 280071 ALG11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip C3150913 ALG11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20080937, 22213132, 27604308 -
ALG12-CDG 79324 ALG12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 1G C2931001 ALG12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11983712, 12093361, 12217961, 12736397, 17506107, 27604308 -
ALG2-CDG 79326 ALG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii C1842836 ALG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12684507, 23404334, 27604308 -
ALG3-CDG 79321 ALG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id C1832736 ALG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10581255, 15840742, 16006436, 19862844, 27604308 -
ALG6-CDG 79320 ALG6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 1C C2930997 ALG6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10359825, 10852543, 10914684, 10924277, 11106564, 11134235, 12357336, 12855228, 14517965, 15771971, 16007612, 19862844, 20447155, 23044053, 23430515, 25525159, 26453362, 27287710, 27604308 -
ALG8-CDG 79325 ALG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -